Article
Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice.
Neurobiology of disease - 1 Mar 2013
Nuytens Kim, Gantois Ilse, Stijnen Pieter, Iscru Emilia, Laeremans Annelies, Serneels Lutgarde, Van Eylen Lien, Liebhaber Stephen A, Devriendt Koen, Balschun Detlef, Arckens Lutgarde, Creemers John W M, D'Hooge Rudi
Abstract excerpt
Neurobeachin (NBEA), a brain-enriched multidomain scaffolding protein involved in neurotransmitter release and synaptic functioning, has been identified as a candidate gene for autism spectrum disorder (ASD) in four unrelated patients haploinsufficient for NBEA. The aim of this study was to map the behavioral phenotype of Nbea(+/-) mice in order to understand its contribution to the pathogenesis of ASD. ASD-like...
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